Emily's story

Some of my friends may be surprised to hear that I have Gauchers Disease, a very rare and incurable genetic disorder. Despite being diagnosed at the age of 14 and receiving treatment constantly since then, I have not talked about it much. And now I am outing myself (and running 10k) in the name of charity!

Only 300 people in the UK suffer from Gauchers Disease: it is super rare, although it is more common amongst people of Ashkenazi Jewish descent. It is a lysosomal storage disorder which means it affects the way that cells store certain products: in basic terms it is a missing enzyme. Sufferers can be affected in many different ways including bone problems, growth problems and problems with certain organs.

The Gauchers Association is the charity which helps patients who suffer from this disease. When I was first diagnosed, I would have been lost without them. I am now a trustee of the charity and am privileged to be involved in some of the amazing work they do, including getting treatment to desperate people in far-flung corners of the world where no treatment or funding is available.

The Gauchers Association desperately needs funds to be able to continue this incredible work. Please donate anything you can, no matter how small.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.